Targeting the liver to treat the eye por Berna Seker Yilmaz, Paul Gissen

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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders por Berna Şeker Yılmaz, Serdar Ceylaner, Neslihan Önenli Mungan

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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency por Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan

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Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations por Deniz Kör, Berna Şeker-Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Murat Öktem, Serdar Ceylaner, Dinçer Yıldızdaş, Neslihan Önenli-Mungan

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Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations por Berna Şeker-Yılmaz, Deniz Kör, Fatma Derya Bulut, Bilgin Yüksel, Aysun Karabay-Bayazıt, Ali Kemal Topaloğlu, Gülay Ceylaner, Neslihan Önenli-Mungan

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Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey por Neslihan Önenli-Mungan, Bilgin Yüksel, Ali Kemal Topaloğlu, Berna Şeker-Yılmaz, Gülay Ceylaner, Aytül Noyan, Sevgi Yavuz, Nurcan Cengiz, Aysun Karabay-Bayazıt, Deniz Kör, Ali Anarat

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Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia por Mushtaha Ahmad, Alaa ElRasoul, Raneem Sedayou, Mohammed Tamboosi, Hanan Mahroos, Shaimaa Alrashed, Mariam Tunkar, Faisal Alzahrani, Mohammed Alharbi, Mona Aljehani, Mousa Alahmari, Khalid Alqarni, Maha Gashlan, Berna Seker Yilmaz, Nahla M. Alshaikh

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